MCID: PYR011
MIFTS: 30

Pyropoikilocytosis malady

Blood category

Summaries for Pyropoikilocytosis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

MalaCards: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hereditary elliptocytosis and hereditary spherocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)), and among its related pathways are NCAM signaling for neurite out-growth and Interaction between L1 and Ankyrins. Related mouse phenotypes are liver/biliary system and immune system.

Description from OMIM:47 141700,266140

Aliases & Classifications for Pyropoikilocytosis

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

pyropoikilocytosis 47
hereditary pyropoikilocytosis 49 47 61


External Ids:

ICD10 via Orphanet26 D58.1
SNOMED-CT via Orphanet58 9434008
UMLS via Orphanet62 C0520739

Related Diseases for Pyropoikilocytosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Pyropoikilocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.8EPB41, SPTB, SPTA1
2hereditary spherocytosis30.2SPTB, SPTA1
3pyropoikilocytosis hereditary10.8
4homozygous hereditary elliptocytosis10.0
5malaria10.0EPB41
6thalassemia10.0SPTB
7deficiency anemia10.0SPTA1, SPTB, EPB41

Graphical network of diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Clinical Features for Pyropoikilocytosis

Sources:
47OMIM
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Clinical features from OMIM:

141700,266140

Clinical synopsis from OMIM:

141700

Drugs & Therapeutics for Pyropoikilocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pyropoikilocytosis

Anatomical Context for Pyropoikilocytosis

Animal Models for Pyropoikilocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Pyropoikilocytosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5SPTA1, EPB41, SPTB
2MP:00053878.5EPB41, SPTB, SPTA1
3MP:00053678.4SPTB, SPTA1, EPB41
4MP:00053978.2EPB41, SPTB, SPTA1

Publications for Pyropoikilocytosis

Sources:
51PubMed
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Articles related to Pyropoikilocytosis:

(show all 38)
idTitleAuthorsYear
1
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. (22882093)
2012
2
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. (21054813)
2011
3
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. (18492110)
2008
4
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. (18815189)
2008
5
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. (18454487)
2008
6
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. (17279012)
2007
7
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. (16150946)
2005
8
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. (14687038)
2004
9
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
10
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
11
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. (7795252)
1995
12
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. (8364214)
1993
13
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. (8418610)
1993
14
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. (1541680)
1992
15
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. (17590771)
1991
16
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597)
1991
17
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (1845156)
1991
18
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
19
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
20
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
21
Malaria, hereditary elliptocytosis, and pyropoikilocytosis. (2564967)
1989
22
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
23
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
24
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
25
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
26
Partial spectrin deficiency in hereditary pyropoikilocytosis. (3955236)
1986
27
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. (3995028)
1985
28
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. (6473460)
1984
29
Identification of the hereditary pyropoikilocytosis carrier state. (6722357)
1984
30
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. (6476002)
1984
31
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. (6863544)
1983
32
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. (6640107)
1983
33
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
34
The pyropoikilocytosis-elliptocytosis syndrome in a black South African infant: clinical and hematological features. (7149173)
1982
35
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
36
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. (7448405)
1981
37
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. (7276161)
1981
38
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. (447859)
1979

Genetic Variations for Pyropoikilocytosis

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pyropoikilocytosis:

63
id Symbol AA change Variation SNP ID
1SPTA1p.Lys48ArgVAR_001335
2SPTA1p.Leu207ProVAR_001339rs121918643

Expression for genes affiliated with Pyropoikilocytosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyropoikilocytosis

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Pathways for genes affiliated with Pyropoikilocytosis

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54Reactome, 52QIAGEN
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Pathways related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0SPTA1, SPTB
29.0SPTA1, SPTB
3
Hide members
8.5SPTA1, SPTB, EPB41

Compounds for genes affiliated with Pyropoikilocytosis

GO Terms for genes affiliated with Pyropoikilocytosis

Sources:
16Gene Ontology
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Cellular components related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.1SPTB, EPB41
2intrinsic to internal side of plasma membraneGO:0312358.9SPTB, SPTA1
3actin cytoskeletonGO:0156298.7SPTA1, SPTB
4spectrin-associated cytoskeletonGO:0147318.6SPTA1, SPTB, EPB41
5spectrinGO:0080918.5SPTA1, SPTB, EPB41

Biological processes related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein bindingGO:0320929.2EPB41, SPTA1
2porphyrin-containing compound biosynthetic processGO:0067799.1SPTA1, SPTB
3plasma membrane organizationGO:0070099.1SPTA1, SPTB
4actin filament cappingGO:0516939.0SPTA1, SPTB
5axon guidanceGO:0074119.0SPTA1, SPTB
6hemopoiesisGO:0300978.7SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.0SPTA1, SPTB
2actin filament bindingGO:0510158.9SPTA1, SPTB
3actin bindingGO:0037798.8SPTB, EPB41
4structural constituent of cytoskeletonGO:0052008.5SPTA1, SPTB, EPB41

Products for genes affiliated with Pyropoikilocytosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyropoikilocytosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet